-
1
-
-
11244320353
-
The nuclear lamina comes of age
-
Gruenbaum, Y., Margalit, A., Goldman, R. D., Shumaker, D. K., and Wilson, K. L. (2005) The nuclear lamina comes of age. Nat. Rev. Mol. Cell. Biol. 6, 21-31
-
(2005)
Nat. Rev. Mol. Cell. Biol.
, vol.6
, pp. 21-31
-
-
Gruenbaum, Y.1
Margalit, A.2
Goldman, R.D.3
Shumaker, D.K.4
Wilson, K.L.5
-
2
-
-
28444472419
-
Pushing the envelope: Structure, function, and dynamics of the nuclear periphery
-
Hetzer, M. W., Walther, T. C., and Mattaj, I. W. (2005) Pushing the envelope: structure, function, and dynamics of the nuclear periphery. Annu. Rev. Cell Dev. Biol. 21, 347-380
-
(2005)
Annu. Rev. Cell Dev. Biol.
, vol.21
, pp. 347-380
-
-
Hetzer, M.W.1
Walther, T.C.2
Mattaj, I.W.3
-
3
-
-
0037064176
-
Role of ANC-1 in tethering nuclei to the actin cytoskeleton
-
Starr, D. A., and Han, M. (2002) Role of ANC-1 in tethering nuclei to the actin cytoskeleton. Science 298, 406-409
-
(2002)
Science
, vol.298
, pp. 406-409
-
-
Starr, D.A.1
Han, M.2
-
4
-
-
29944445023
-
Coupling of the nucleus and cytoplasm: Role of the LINC complex
-
Crisp, M., Liu, Q., Roux, K., Rattner, J. B., Shanahan, C., Burke, B., Stahl, P. D., and Hodzic, D. (2006) Coupling of the nucleus and cytoplasm: role of the LINC complex. J. Cell Biol. 172, 41-53
-
(2006)
J. Cell Biol.
, vol.172
, pp. 41-53
-
-
Crisp, M.1
Liu, Q.2
Roux, K.3
Rattner, J.B.4
Shanahan, C.5
Burke, B.6
Stahl, P.D.7
Hodzic, D.8
-
5
-
-
0141995069
-
The nuclear pore complex: Nucleocytoplasmic transport and beyond
-
Fahrenkrog, B., and Aebi, U. (2003) The nuclear pore complex: nucleocytoplasmic transport and beyond. Nat. Rev. Mol. Cell. Biol. 4, 757-766
-
(2003)
Nat. Rev. Mol. Cell. Biol.
, vol.4
, pp. 757-766
-
-
Fahrenkrog, B.1
Aebi, U.2
-
6
-
-
0031686054
-
Nuclear lamins: Their structure, assembly, and interactions
-
Stuurman, N., Heins, S., and Aebi, U. (1998) Nuclear lamins: their structure, assembly, and interactions. J. Struct Biol. 122, 42-66
-
(1998)
J. Struct Biol.
, vol.122
, pp. 42-66
-
-
Stuurman, N.1
Heins, S.2
Aebi, U.3
-
7
-
-
25144515509
-
Nuclear envelope, nuclear lamina, and inherited disease
-
Worman, H. J., and Courvalin, J. C. (2005) Nuclear envelope, nuclear lamina, and inherited disease. Int. Rev. Cytol. 246, 231-279
-
(2005)
Int. Rev. Cytol.
, vol.246
, pp. 231-279
-
-
Worman, H.J.1
Courvalin, J.C.2
-
8
-
-
0033749567
-
Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes
-
Liu, J., Ben-Shahar, T., Riemer, D., Treinin, M., Spann, P., Weber, K., Fire, A., and Gruenbaum, Y. (2000) Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes. Mol. Biol. Cell 11, 3937-3947
-
(2000)
Mol. Biol. Cell
, vol.11
, pp. 3937-3947
-
-
Liu, J.1
Ben-Shahar, T.2
Riemer, D.3
Treinin, M.4
Spann, P.5
Weber, K.6
Fire, A.7
Gruenbaum, Y.8
-
9
-
-
0035972145
-
Involvement of the lamin rod domain in heterotypic lamin interactions important for nuclear organization
-
Schirmer, E. C., Guan, T., and Gerace, L. (2001) Involvement of the lamin rod domain in heterotypic lamin interactions important for nuclear organization. J. Cell Biol. 153, 479-489
-
(2001)
J. Cell Biol.
, vol.153
, pp. 479-489
-
-
Schirmer, E.C.1
Guan, T.2
Gerace, L.3
-
10
-
-
1542317663
-
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
-
Lammerding, J., Schulze, P., Takahashi, T., Kozlov, S., Sullivan, T., Kamm, R., Stewart, C., and Lee, R. (2004) Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Investig. 113, 370-378
-
(2004)
J. Clin. Investig.
, vol.113
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.2
Takahashi, T.3
Kozlov, S.4
Sullivan, T.5
Kamm, R.6
Stewart, C.7
Lee, R.8
-
11
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., and Toniolo, D. (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat. Genet. 8, 323-327
-
(1994)
Nat. Genet.
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
12
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano, A., Koga, R., Ogawa, M., Kurano, Y., Kawada, J., Okada, R., Hayashi, Y. K., Tsukahara, T., and Arahata, K. (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat. Genet. 12, 254-259
-
(1996)
Nat. Genet.
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
Kurano, Y.4
Kawada, J.5
Okada, R.6
Hayashi, Y.K.7
Tsukahara, T.8
Arahata, K.9
-
13
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
Manilal, S., Nguyen, T. M., Sewry, C. A., and Morris, G. E. (1996) The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum. Mol. Genet. 5, 801-808
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 801-808
-
-
Manilal, S.1
Nguyen, T.M.2
Sewry, C.A.3
Morris, G.E.4
-
14
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne, G., Di Barletta, M. R., Varnous, S., Becane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J. A., Duboc, D., Fardeau, M., Toniolo, D., and Schwartz, K. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21, 285-288
-
(1999)
Nat. Genet.
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Becane, H.M.4
Hammouda, E.H.5
Merlini, L.6
Muntoni, F.7
Greenberg, C.R.8
Gary, F.9
Urtizberea, J.A.10
Duboc, D.11
Fardeau, M.12
Toniolo, D.13
Schwartz, K.14
-
15
-
-
0033927867
-
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
-
Raffaele Di Barletta, M., Ricci, E., Galluzzi, G., Tonali, P., Mora, M., Morandi, L., Romorini, A., Voit, T., Orstavik, K. H., Merlini, L., Trevisan, C., Biancalana, V., Housmanowa-Petrusewicz, I., Bione, S., Ricotti, R., Schwartz, K., Bonne, G., and Toniolo, D. (2000) Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy. Am. J. Hum. Genet. 66, 1407-1412
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1407-1412
-
-
Raffaele Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
Romorini, A.7
Voit, T.8
Orstavik, K.H.9
Merlini, L.10
Trevisan, C.11
Biancalana, V.12
Housmanowa-Petrusewicz, I.13
Bione, S.14
Ricotti, R.15
Schwartz, K.16
Bonne, G.17
Toniolo, D.18
-
16
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
-
Muchir, A., Bonne, G., van der Kooi, A. J., van Meegen, M., Baas, F., Bolhuis, P. A., de Visser, M., and Schwartz, K. (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum. Mol. Genet. 9, 1453-1459
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
van der Kooi, A.J.3
van Meegen, M.4
Baas, F.5
Bolhuis, P.A.6
de Visser, M.7
Schwartz, K.8
-
17
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Jr., Spudich, S., De Girolami, U., Seidman, J. G., Seidman, C., Muntoni, F., Muehle, G., Johnson, W., and McDonough, B. (1999) Missense mutations in the rod domain of the lamin A/ C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med. 341, 1715-1724
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
Atherton, J.7
Vidaillet Jr., H.J.8
Spudich, S.9
De Girolami, U.10
Seidman, J.G.11
Seidman, C.12
Muntoni, F.13
Muehle, G.14
Johnson, W.15
McDonough, B.16
-
18
-
-
0035697055
-
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
-
Ostlund, C., Bonne, G., Schwartz, K., and Worman, H. J. (2001) Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J. Cell Sci. 114, 4435-4445
-
(2001)
J. Cell Sci.
, vol.114
, pp. 4435-4445
-
-
Ostlund, C.1
Bonne, G.2
Schwartz, K.3
Worman, H.J.4
-
19
-
-
0034719343
-
Direct interaction between emerin and lamin A
-
Clements, L., Manilal, S., Love, D. R., and Morris, G. E. (2000) Direct interaction between emerin and lamin A. Biochem. Biophys. Res. Commun. 267, 709-714
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.267
, pp. 709-714
-
-
Clements, L.1
Manilal, S.2
Love, D.R.3
Morris, G.E.4
-
20
-
-
0345084450
-
Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)
-
Fidzianska, A., Toniolo, D., and Hausmanowa-Petrusewicz, I. (1998) Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD). J. Neurol. Sci. 159, 88-93
-
(1998)
J. Neurol. Sci.
, vol.159
, pp. 88-93
-
-
Fidzianska, A.1
Toniolo, D.2
Hausmanowa-Petrusewicz, I.3
-
21
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C. L., and Burke, B. (1999) Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J. Cell Biol. 147, 913-920
-
(1999)
J. Cell Biol.
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
Anver, M.4
Bhat, N.5
Nagashima, K.6
Stewart, C.L.7
Burke, B.8
-
22
-
-
7944232477
-
Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleocytoskeletal integrity: Implications for the development of laminopathies
-
Broers, J. L., Peeters, E. A., Kuijpers, H. J., Endert, J., Bouten, C. V., Oomens, C. W., Baaijens, F. P., and Ramaekers, F. C. (2004) Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleocytoskeletal integrity: Implications for the development of laminopathies. Hum. Mol. Genet. 13, 2567-2580
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2567-2580
-
-
Broers, J.L.1
Peeters, E.A.2
Kuijpers, H.J.3
Endert, J.4
Bouten, C.V.5
Oomens, C.W.6
Baaijens, F.P.7
Ramaekers, F.C.8
-
23
-
-
24144481867
-
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
-
Lammerding, J., Hsiao, J., Schulze, P. C., Kozlov, S., Stewart, C. L., and Lee, R. T. (2005) Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J. Cell Biol. 170, 781-791
-
(2005)
J. Cell Biol.
, vol.170
, pp. 781-791
-
-
Lammerding, J.1
Hsiao, J.2
Schulze, P.C.3
Kozlov, S.4
Stewart, C.L.5
Lee, R.T.6
-
24
-
-
0023766203
-
Heterotypic and homotypic associations between the nuclear lamins: Site-specificity and control by phosphorylation
-
Georgatos, S. D., Stoumaras, C., and Blobel, G. (1988) Heterotypic and homotypic associations between the nuclear lamins: site-specificity and control by phosphorylation. Proc. Natl. Acad. Sci. U. S. A. 85, 4325-4329
-
(1988)
Proc. Natl. Acad. Sci. U. S. A.
, vol.85
, pp. 4325-4329
-
-
Georgatos, S.D.1
Stoumaras, C.2
Blobel, G.3
-
25
-
-
5644250530
-
The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths
-
Schirmer, E. C., and Gerace, L. (2004) The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths. J. Biol. Chem. 279, 42811-42817
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 42811-42817
-
-
Schirmer, E.C.1
Gerace, L.2
-
26
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
Cao, H., and Hegele, R. A. (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet. 9, 109-112
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
27
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
Shackleton, S., Lloyd, D. J., Jackson, S. N., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., Gregory, S., O'Rahilly, S., and Trembath, R. C. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat. Genet. 24, 153-156
-
(2000)
Nat. Genet.
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
Evans, R.4
Niermeijer, M.F.5
Singh, B.M.6
Schmidt, H.7
Brabant, G.8
Kumar, S.9
Durrington, P.N.10
Gregory, S.11
O'Rahilly, S.12
Trembath, R.C.13
-
28
-
-
0036178210
-
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
-
De Sandre-Giovannoli, A., Chaouch, M., Kozlov, S., Vallat, J., Tazir, M., Kassouri, N., Szepetowski, P., Hammadouche, T., Vandenberghe, A., Stewart, C., Grid, D., and Levy, N. (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am. J. Hum. Genet. 70, 726-736
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
Vallat, J.4
Tazir, M.5
Kassouri, N.6
Szepetowski, P.7
Hammadouche, T.8
Vandenberghe, A.9
Stewart, C.10
Grid, D.11
Levy, N.12
-
29
-
-
19544374472
-
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
-
Navarro, C. L., De Sandre-Giovannoli, A., Bernard, R., Boccaccio, I., Boyer, A., Genevieve, D., Hadj-Rabia, S., Gaudy-Marqueste, C., Smitt, H. S., Vabres, P., Faivre, L., Verloes, A., Van Essen, T., Flori, E., Hennekam, R., Beemer, F. A., Laurent, N., Le Merrer, M., Cau, P., and Levy, N. (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum. Mol. Genet. 13, 2493-2503
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2493-2503
-
-
Navarro, C.L.1
De Sandre-Giovannoli, A.2
Bernard, R.3
Boccaccio, I.4
Boyer, A.5
Genevieve, D.6
Hadj-Rabia, S.7
Gaudy-Marqueste, C.8
Smitt, H.S.9
Vabres, P.10
Faivre, L.11
Verloes, A.12
Van Essen, T.13
Flori, E.14
Hennekam, R.15
Beemer, F.A.16
Laurent, N.17
Le Merrer, M.18
Cau, P.19
Levy, N.20
more..
-
30
-
-
13544274478
-
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
-
Hellemans, J., Preobrazhenska, O., Willaert, A., Debeer, P., Verdonk, P. C., Costa, T., Janssens, K., Menten, B., Van Roy, N., Vermeulen, S. J., Savarirayan, R., Van Hul, W., Vanhoenacker, F., Huylebroeck, D., De Paepe, A., Naeyaert, J. M., Vandesompele, J., Speleman, F., Verschueren, K., Coucke, P. J., and Mortler, G. R. (2004) Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat. Genet. 36, 1213-1218
-
(2004)
Nat. Genet.
, vol.36
, pp. 1213-1218
-
-
Hellemans, J.1
Preobrazhenska, O.2
Willaert, A.3
Debeer, P.4
Verdonk, P.C.5
Costa, T.6
Janssens, K.7
Menten, B.8
Van Roy, N.9
Vermeulen, S.J.10
Savarirayan, R.11
Van Hul, W.12
Vanhoenacker, F.13
Huylebroeck, D.14
De Paepe, A.15
Naeyaert, J.M.16
Vandesompele, J.17
Speleman, F.18
Verschueren, K.19
Coucke, P.J.20
Mortler, G.R.21
more..
-
31
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., de Leon, D., Brin, M. F., Raymond, D., Corey, D. P., Fahn, S., Risch, N. J., Buckler, A. J., Gusella, J. F., and Breakefield, X. O. (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 17, 40-48
-
(1997)
Nat. Genet.
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
Bressman, S.B.4
Kramer, P.L.5
Shalish, C.6
de Leon, D.7
Brin, M.F.8
Raymond, D.9
Corey, D.P.10
Fahn, S.11
Risch, N.J.12
Buckler, A.J.13
Gusella, J.F.14
Breakefield, X.O.15
-
32
-
-
2442637778
-
TorsinA in the nuclear envelope
-
Naismith, T. V., Heuser, J. E., Breakefield, X. O., and Hanson, P. I. (2004) TorsinA in the nuclear envelope. Proc. Natl. Acad. Sci. U. S. A. 101, 7612-7617
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 7612-7617
-
-
Naismith, T.V.1
Heuser, J.E.2
Breakefield, X.O.3
Hanson, P.I.4
-
33
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford progeria
-
De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C., Munnich, A., Le Merrer, M., and Levy, N. (2003) Lamin A truncation in Hutchinson-Gilford progeria. Science 300, 2055
-
(2003)
Science
, vol.300
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
Lyonnet, S.7
Stewart, C.8
Munnich, A.9
Le Merrer, M.10
Levy, N.11
-
34
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., Dutra, A., Pak, E., Durkin, S., Csoka, A. B., Boehnke, M., Glover, T. W., and Collins, F. S. (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293-298
-
(2003)
Nature
, vol.423
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
Glynn, M.W.4
Singer, J.5
Scott, L.6
Erdos, M.R.7
Robbins, C.M.8
Moses, T.Y.9
Berglund, P.10
Dutra, A.11
Pak, E.12
Durkin, S.13
Csoka, A.B.14
Boehnke, M.15
Glover, T.W.16
Collins, F.S.17
-
35
-
-
0042736696
-
LMNA mutations in atypical Werner's syndrome
-
Chen, L., Lee, L., Kudlow, B. A., Dos Santos, H. G., Sletvold, O., Shafeghati, Y., Botha, E. G., Garg, A., Hanson, N. B., Martin, G. M., Mian, I. S., Kennedy, B. K., and Oshima, J. (2003) LMNA mutations in atypical Werner's syndrome. Lancet 362, 440-445
-
(2003)
Lancet
, vol.362
, pp. 440-445
-
-
Chen, L.1
Lee, L.2
Kudlow, B.A.3
Dos Santos, H.G.4
Sletvold, O.5
Shafeghati, Y.6
Botha, E.G.7
Garg, A.8
Hanson, N.B.9
Martin, G.M.10
Mian, I.S.11
Kennedy, B.K.12
Oshima, J.13
-
36
-
-
0345535128
-
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3β-hydroxysterol Δ14-reductase deficiency due to mutations in the lamin B receptor gene
-
Waterham, H., Koster, J., Mooyer, P., Noort, G. G., Kelley, R., Wilcox, W., Wanders, R., Hennekam, R., and Oosterwijk, J. (2003) Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3β-hydroxysterol Δ14-reductase deficiency due to mutations in the lamin B receptor gene. Am. J. Hum. Genet. 72, 1013-1017
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1013-1017
-
-
Waterham, H.1
Koster, J.2
Mooyer, P.3
Noort, G.G.4
Kelley, R.5
Wilcox, W.6
Wanders, R.7
Hennekam, R.8
Oosterwijk, J.9
-
37
-
-
0033021606
-
Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein
-
Ostlund, C., Ellenberg, J., Hallberg, E., Lippincott-Schwartz, J., and Worman, H. J. (1999) Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein. J. Cell Sci. 112, 1709-1719
-
(1999)
J. Cell Sci.
, vol.112
, pp. 1709-1719
-
-
Ostlund, C.1
Ellenberg, J.2
Hallberg, E.3
Lippincott-Schwartz, J.4
Worman, H.J.5
-
38
-
-
0035146907
-
Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina
-
Cohen, M., Lee, K. K., Wilson, K. L., and Gruenbaum, Y. (2001) Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina. Trends Biochem. Sci. 26, 41-47
-
(2001)
Trends Biochem. Sci.
, vol.26
, pp. 41-47
-
-
Cohen, M.1
Lee, K.K.2
Wilson, K.L.3
Gruenbaum, Y.4
-
39
-
-
0032770837
-
Structure and function of the nucleus: Anatomy and physiology of chromatin
-
Qumsiyeh, M. B. (1999) Structure and function of the nucleus: anatomy and physiology of chromatin. Cell. Mol. Life Sci. 55, 1129-1140
-
(1999)
Cell. Mol. Life Sci.
, vol.55
, pp. 1129-1140
-
-
Qumsiyeh, M.B.1
-
40
-
-
10444232746
-
Chromatin organization in the mammalian nucleus
-
Gilbert, N., Gilchrist, S., and Bickmore, W. A. (2005) Chromatin organization in the mammalian nucleus. Int. Rev. Cytol. 242, 283-336
-
(2005)
Int. Rev. Cytol.
, vol.242
, pp. 283-336
-
-
Gilbert, N.1
Gilchrist, S.2
Bickmore, W.A.3
-
41
-
-
0242383489
-
Dynamic interactions of nuclear lamina proteins with chromatin and transcriptional machinery
-
Mattout-Drubezki, A., and Gruenbaum, Y. (2003) Dynamic interactions of nuclear lamina proteins with chromatin and transcriptional machinery. Cell. Mol. Life Sci. 60, 2053-2063
-
(2003)
Cell. Mol. Life Sci.
, vol.60
, pp. 2053-2063
-
-
Mattout-Drubezki, A.1
Gruenbaum, Y.2
-
42
-
-
0032490917
-
Perinuclear localization of chromatin facilitates transcriptional silencing
-
Andrulis, E. D., Neiman, A. M., Zappulla, D. C., and Sternglanz, R. (1998) Perinuclear localization of chromatin facilitates transcriptional silencing. Nature 394, 592-595
-
(1998)
Nature
, vol.394
, pp. 592-595
-
-
Andrulis, E.D.1
Neiman, A.M.2
Zappulla, D.C.3
Sternglanz, R.4
-
43
-
-
0033602020
-
Organization of early and late replicating DNA in human chromosome territories
-
Zink, D., Bornfleth, H., Visser, A., Cremer, C., and Cremer, T. (1999) Organization of early and late replicating DNA in human chromosome territories. Exp. Cell Res. 247, 176-188
-
(1999)
Exp. Cell Res.
, vol.247
, pp. 176-188
-
-
Zink, D.1
Bornfleth, H.2
Visser, A.3
Cremer, C.4
Cremer, T.5
-
44
-
-
0033612538
-
Large-scale chromatin unfolding and remodeling induced by VP16 acidic activation domain
-
Tumbar, T., Sudlow, G., and Belmont, A S. (1999) Large-scale chromatin unfolding and remodeling induced by VP16 acidic activation domain. J. Cell Biol. 145, 1341-1354
-
(1999)
J. Cell Biol.
, vol.145
, pp. 1341-1354
-
-
Tumbar, T.1
Sudlow, G.2
Belmont, A.S.3
-
45
-
-
0036375918
-
Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling
-
Maraldi, N. M., Squarzoni, S., Sabatelli, P., Lattanzi, G., Ognibene, A., and Manzoli, F. A. (2002) Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling. Adv. Enzyme Regul. 42, 1-18
-
(2002)
Adv. Enzyme Regul.
, vol.42
, pp. 1-18
-
-
Maraldi, N.M.1
Squarzoni, S.2
Sabatelli, P.3
Lattanzi, G.4
Ognibene, A.5
Manzoli, F.A.6
-
46
-
-
2942643923
-
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
-
Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E., Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R., and Collins, F. S. (2004) Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc. Natl. Acad. Sci. U. S. A. 101, 8963-8968
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 8963-8968
-
-
Goldman, R.D.1
Shumaker, D.K.2
Erdos, M.R.3
Eriksson, M.4
Goldman, A.E.5
Gordon, L.B.6
Gruenbaum, Y.7
Khuon, S.8
Mendez, M.9
Varga, R.10
Collins, F.S.11
-
47
-
-
28344440157
-
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy
-
Filesi, I., Gullotta, F., Lattanzi, G., D'Apice, M. R., Capanni, C., Nardone, A. M., Columbaro, M., Scarano, G., Mattioli, E., Sabatelli, P., Maraldi, N. M., Biocca, S., and Novelli, G. (2005) Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol. Genomics 23, 150-158
-
(2005)
Physiol. Genomics
, vol.23
, pp. 150-158
-
-
Filesi, I.1
Gullotta, F.2
Lattanzi, G.3
D'Apice, M.R.4
Capanni, C.5
Nardone, A.M.6
Columbaro, M.7
Scarano, G.8
Mattioli, E.9
Sabatelli, P.10
Maraldi, N.M.11
Biocca, S.12
Novelli, G.13
-
48
-
-
0027976913
-
The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein
-
Mancini, M. A., Shan, B., Nickerson, J. A., Penman, S., and Lee, W. H. (1994) The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein. Proc. Natl. Acad. Sci. U. S. A. 91, 418-422
-
(1994)
Proc. Natl. Acad. Sci. U. S. A.
, vol.91
, pp. 418-422
-
-
Mancini, M.A.1
Shan, B.2
Nickerson, J.A.3
Penman, S.4
Lee, W.H.5
-
49
-
-
1842854443
-
Lamin A/C binding protein LAP2α is required for nuclear anchorage of retinoblastoma protein
-
Markiewicz, E., Dechat, T., Foisner, R., Quinlan, R., and Hutchison, C. (2002) Lamin A/C binding protein LAP2α is required for nuclear anchorage of retinoblastoma protein. Mol. Biol. Cell 13, 4401-4413
-
(2002)
Mol. Biol. Cell
, vol.13
, pp. 4401-4413
-
-
Markiewicz, E.1
Dechat, T.2
Foisner, R.3
Quinlan, R.4
Hutchison, C.5
-
50
-
-
0036537888
-
A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies
-
Lloyd, D. J., Trembath, R. C., and Shackleton, S. (2002) A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum. Mol. Genet. 11, 769-777
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 769-777
-
-
Lloyd, D.J.1
Trembath, R.C.2
Shackleton, S.3
-
51
-
-
20444449733
-
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy
-
Capanni, C., Mattioli, E., Columbaro, M., Lucarelli, E., Parnaik, V. K., Novelli, G., Wehnert, M., Cenni, V., Maraldi, N. M., Squarzoni, S., and Lattanzi, G. (2005) Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum. Mol. Genet. 14, 1489-1502
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1489-1502
-
-
Capanni, C.1
Mattioli, E.2
Columbaro, M.3
Lucarelli, E.4
Parnaik, V.K.5
Novelli, G.6
Wehnert, M.7
Cenni, V.8
Maraldi, N.M.9
Squarzoni, S.10
Lattanzi, G.11
-
52
-
-
0034777991
-
Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less)
-
Nili, E., Cojocaru, G. S., Kalma, Y., Ginsberg, D., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Berger, R., Shaklai, S., Amariglio, N., Brok-Simoni, F., Simon, A. J., and Rechavi, G. (2001) Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less). J. Cell Sci. 114, 3297-3307
-
(2001)
J. Cell Sci.
, vol.114
, pp. 3297-3307
-
-
Nili, E.1
Cojocaru, G.S.2
Kalma, Y.3
Ginsberg, D.4
Copeland, N.G.5
Gilbert, D.J.6
Jenkins, N.A.7
Berger, R.8
Shaklai, S.9
Amariglio, N.10
Brok-Simoni, F.11
Simon, A.J.12
Rechavi, G.13
-
53
-
-
0037470050
-
Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro
-
Holaska, J. M., Lee, K., Kowalski, A. K., and Wilson, K. L. (2003) Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. J. Biol. Chem. 278, 6969-6975
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 6969-6975
-
-
Holaska, J.M.1
Lee, K.2
Kowalski, A.K.3
Wilson, K.L.4
-
54
-
-
32644441628
-
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
-
Bakay, M., Wang, Z., Melcon, G., Schiltz, L., Xuan, J., Zhao, P., Sartorelli, V., Seo, J., Pegoraro, E., Angelini, C., Shneiderman, B., Escolar, D., Chen, Y. W., Winokur, S. T., Pachman, L. M., Fan, C., Mandler, R., Nevo, Y., Gordon, E., Zhu, Y., Dong, Y., Wang, Y., and Hoffman, E. P. (2006) Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 129, 996-1013
-
(2006)
Brain
, vol.129
, pp. 996-1013
-
-
Bakay, M.1
Wang, Z.2
Melcon, G.3
Schiltz, L.4
Xuan, J.5
Zhao, P.6
Sartorelli, V.7
Seo, J.8
Pegoraro, E.9
Angelini, C.10
Shneiderman, B.11
Escolar, D.12
Chen, Y.W.13
Winokur, S.T.14
Pachman, L.M.15
Fan, C.16
Mandler, R.17
Nevo, Y.18
Gordon, E.19
Zhu, Y.20
Dong, Y.21
Wang, Y.22
Hoffman, E.P.23
more..
-
55
-
-
22544466685
-
Genomic instability in laminopathy-based premature aging
-
Liu, B., Wang, J., Chan, K. M., Tjia, W. M., Deng, W., Guan, X., Huang, J. D., Li, K. M., Chau, P. Y., Chen, D. J., Pei, D., Pendas, A. M., Cadinanos, J., Lopez-Otin, C., Tse, H. F., Hutchison, C., Chen, J., Cao, Y., Cheah, K. S., Tryggvason, K., and Zhou, Z. (2005) Genomic instability in laminopathy-based premature aging. Nat. Med. 11, 780-785
-
(2005)
Nat. Med.
, vol.11
, pp. 780-785
-
-
Liu, B.1
Wang, J.2
Chan, K.M.3
Tjia, W.M.4
Deng, W.5
Guan, X.6
Huang, J.D.7
Li, K.M.8
Chau, P.Y.9
Chen, D.J.10
Pei, D.11
Pendas, A.M.12
Cadinanos, J.13
Lopez-Otin, C.14
Tse, H.F.15
Hutchison, C.16
Chen, J.17
Cao, Y.18
Cheah, K.S.19
Tryggvason, K.20
Zhou, Z.21
more..
-
56
-
-
17844401766
-
Nuclear envelopathies - Raising the nuclear veil
-
Somech, R., Shaklai, S., Amariglio, N., Rechavi, G., and Simon, A. J. (2005) Nuclear envelopathies - raising the nuclear veil. Pediatr. Res. 57, 8R-15R
-
(2005)
Pediatr. Res.
, vol.57
-
-
Somech, R.1
Shaklai, S.2
Amariglio, N.3
Rechavi, G.4
Simon, A.J.5
-
57
-
-
2442589861
-
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: From congenital onset with severe phenotype to milder classic Emery-Dreifuss variant
-
Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., and Bushby, K. (2004) Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch. Neurol. 61, 690-694
-
(2004)
Arch. Neurol.
, vol.61
, pp. 690-694
-
-
Mercuri, E.1
Poppe, M.2
Quinlivan, R.3
Messina, S.4
Kinali, M.5
Demay, L.6
Bourke, J.7
Richard, P.8
Sewry, C.9
Pike, M.10
Bonne, G.11
Muntoni, F.12
Bushby, K.13
-
58
-
-
20244375852
-
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
-
Mercuri, E., Brown, S. C., Nihoyannopoulos, P., Poulton, J., Kinali, M., Richard, P., Piercy, R. J., Messina, S., Sewry, C., Burke, M. M., McKenna, W., Bonne, G., and Muntoni, F. (2005) Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve 31, 602-609
-
(2005)
Muscle Nerve
, vol.31
, pp. 602-609
-
-
Mercuri, E.1
Brown, S.C.2
Nihoyannopoulos, P.3
Poulton, J.4
Kinali, M.5
Richard, P.6
Piercy, R.J.7
Messina, S.8
Sewry, C.9
Burke, M.M.10
McKenna, W.11
Bonne, G.12
Muntoni, F.13
-
59
-
-
9144247168
-
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C
-
Tazir, M., Azzedine, H., Assami, S., Sindou, P., Nouioua, S., Zemmouri, R., Hamadouche, T., Chaouch, M., Feingold, J., Vallat, J. M., Leguem, E., and Grid, D. (2004) Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/ C. Brain 127, 154-163
-
(2004)
Brain
, vol.127
, pp. 154-163
-
-
Tazir, M.1
Azzedine, H.2
Assami, S.3
Sindou, P.4
Nouioua, S.5
Zemmouri, R.6
Hamadouche, T.7
Chaouch, M.8
Feingold, J.9
Vallat, J.M.10
Leguem, E.11
Grid, D.12
-
60
-
-
21344454463
-
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
-
Benedetti, S., Bertini, E., Iannaccone, S., Angelini, C., Trisciani, M., Toniolo, D., Sferrazza, B., Carrera, P., Comi, G., Ferrari, M., Quattrini, A., and Previtali, S. C. (2005) Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J. Neurol. Neurosurg. Psychiatry 76, 1019-1021
-
(2005)
J. Neurol. Neurosurg. Psychiatry
, vol.76
, pp. 1019-1021
-
-
Benedetti, S.1
Bertini, E.2
Iannaccone, S.3
Angelini, C.4
Trisciani, M.5
Toniolo, D.6
Sferrazza, B.7
Carrera, P.8
Comi, G.9
Ferrari, M.10
Quattrini, A.11
Previtali, S.C.12
-
61
-
-
0034695924
-
The yeast nuclear pore complex: Composition, architecture, and transport mechanism
-
Rout, M. P., Aitchison, J. D., Suprapto, A., Hjertaas, K., Zhao, Y., and Chait, B. T. (2000) The yeast nuclear pore complex: composition, architecture, and transport mechanism. J. Cell Biol. 148, 635-651
-
(2000)
J. Cell Biol.
, vol.148
, pp. 635-651
-
-
Rout, M.P.1
Aitchison, J.D.2
Suprapto, A.3
Hjertaas, K.4
Zhao, Y.5
Chait, B.T.6
-
62
-
-
0037008997
-
Proteomic analysis of the mammalian nuclear pore complex
-
Cronshaw, J., Krutchinsky, A., Zhang, W., Chait, B., and Matunis, M. (2002) Proteomic analysis of the mammalian nuclear pore complex. J. Cell Biol. 158, 915-927
-
(2002)
J. Cell Biol.
, vol.158
, pp. 915-927
-
-
Cronshaw, J.1
Krutchinsky, A.2
Zhang, W.3
Chait, B.4
Matunis, M.5
-
63
-
-
0036224270
-
Organellar proteomics: The prizes and pitfalls of opening the nuclear envelope
-
reviews1008.1001-1008.1004
-
Schirmer, E., and Gerace, L. (2002) Organellar proteomics: the prizes and pitfalls of opening the nuclear envelope. Genome Biol. 3, reviews1008.1001-1008.1004
-
(2002)
Genome Biol.
, vol.3
-
-
Schirmer, E.1
Gerace, L.2
-
64
-
-
0036699522
-
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly)
-
Hoffmann, K., Dreger, C., Olins, A., Olins, D., Shultz, L., Lucke, B., Karl, H., Kaps, R., Muller, D., Vaya, A., Aznar, J., Ware, R., Sotelo Cruz, N., Lindner, T., Herrmann, H., Reis, A., and Sperling, K. (2002) Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet. 31, 410-414
-
(2002)
Nat Genet.
, vol.31
, pp. 410-414
-
-
Hoffmann, K.1
Dreger, C.2
Olins, A.3
Olins, D.4
Shultz, L.5
Lucke, B.6
Karl, H.7
Kaps, R.8
Muller, D.9
Vaya, A.10
Aznar, J.11
Ware, R.12
Sotelo Cruz, N.13
Lindner, T.14
Herrmann, H.15
Reis, A.16
Sperling, K.17
-
65
-
-
0030029383
-
The MAN antigens are non-lamin constituents of the nuclear lamina in vertebrate cells
-
Paulin-Levasseur, M., Blake, D. L., Julien, M., and Rouleau, L. (1996) The MAN antigens are non-lamin constituents of the nuclear lamina in vertebrate cells. Chromosome 104, 367-379
-
(1996)
Chromosome
, vol.104
, pp. 367-379
-
-
Paulin-Levasseur, M.1
Blake, D.L.2
Julien, M.3
Rouleau, L.4
-
66
-
-
28844466695
-
Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy
-
Taylor, M. R., Slavov, D., Gajewski, A., Vicek, S., Ku, L., Fain, P. R., Carniel, E., Di Lenarda, A., Sinagra, G., Boucek, M. M., Cavanaugh, J., Graw, S. L., Ruegg, P., Feiger, J., Zhu, X., Ferguson, D. A., Bristow, M. R., Gotzmann, J., Foisner, R., and Mestroni, L. (2005) Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum. Mutat 26, 566-574
-
(2005)
Hum. Mutat
, vol.26
, pp. 566-574
-
-
Taylor, M.R.1
Slavov, D.2
Gajewski, A.3
Vicek, S.4
Ku, L.5
Fain, P.R.6
Carniel, E.7
Di Lenarda, A.8
Sinagra, G.9
Boucek, M.M.10
Cavanaugh, J.11
Graw, S.L.12
Ruegg, P.13
Feiger, J.14
Zhu, X.15
Ferguson, D.A.16
Bristow, M.R.17
Gotzmann, J.18
Foisner, R.19
Mestroni, L.20
more..
-
67
-
-
32644479020
-
Here come the SUNs: A nucleocytoskeletal missing link
-
Worman, H. J., and Gundersen, G. G. (2006) Here come the SUNs: a nucleocytoskeletal missing link. Trends Cell Biol. 16, 67-69
-
(2006)
Trends Cell Biol.
, vol.16
, pp. 67-69
-
-
Worman, H.J.1
Gundersen, G.G.2
-
68
-
-
18144411595
-
The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-β superfamily of cytokines
-
Pan, D., Estevez-Salmeron, L. D., Stroschein, S. L., Zhu, X., He, J., Zhou, S., and Luo, K. (2005) The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-β superfamily of cytokines. J. Biol. Chem. 280, 15992-16001
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 15992-16001
-
-
Pan, D.1
Estevez-Salmeron, L.D.2
Stroschein, S.L.3
Zhu, X.4
He, J.5
Zhou, S.6
Luo, K.7
-
69
-
-
0035834037
-
Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane
-
Dreger, M., Bengtsson, L., Schoneberg, T., Otto, H., and Hucho, F. (2001) Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc. Natl. Acad Sci. U. S. A. 98, 11943-11948
-
(2001)
Proc. Natl. Acad Sci. U. S. A.
, vol.98
, pp. 11943-11948
-
-
Dreger, M.1
Bengtsson, L.2
Schoneberg, T.3
Otto, H.4
Hucho, F.5
-
70
-
-
0035106351
-
Large-scale analysis of the yeast proteome by multidimensional protein identification technology
-
Washburn, M. P., Wolters, D., and Yates, J. R., III (2001) Large-scale analysis of the yeast proteome by multidimensional protein identification technology. Nat Biotechnol. 19, 242-247
-
(2001)
Nat Biotechnol.
, vol.19
, pp. 242-247
-
-
Washburn, M.P.1
Wolters, D.2
Yates III, J.R.3
-
71
-
-
0035582244
-
An automated multidimensional protein identification technology for shotgun proteomics
-
Wolters, D. A., Washburn, M. P., and Yates, J. R., III (2001) An automated multidimensional protein identification technology for shotgun proteomics. Anal. Chem. 73, 5683-5690
-
(2001)
Anal. Chem.
, vol.73
, pp. 5683-5690
-
-
Wolters, D.A.1
Washburn, M.P.2
Yates III, J.R.3
-
72
-
-
0000857494
-
An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database
-
Eng, J., McCormack, A., and Yates, J. R., III (1994) An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database. J. Am. Soc. Mass Spectrom. 5, 976-989
-
(1994)
J. Am. Soc. Mass Spectrom.
, vol.5
, pp. 976-989
-
-
Eng, J.1
McCormack, A.2
Yates III, J.R.3
-
73
-
-
0031888036
-
High throughput protein characterization by automated reverse-phase chromatography/electrospray tandem mass spectrometry
-
Ducret, A., Van Oostveen, I., Eng, J. K., Yates, J. R., III, and Aebersold, R. (1998) High throughput protein characterization by automated reverse-phase chromatography/electrospray tandem mass spectrometry. Protein Sci. 7, 706-719
-
(1998)
Protein Sci.
, vol.7
, pp. 706-719
-
-
Ducret, A.1
Van Oostveen, I.2
Eng, J.K.3
Yates III, J.R.4
Aebersold, R.5
-
74
-
-
0034066471
-
Membrane proteins and proteomics: Un amour impossible?
-
Santoni, V., Molloy, M., and Rabilloud, T. (2000) Membrane proteins and proteomics: un amour impossible? Electrophoresis 21, 1054-1070
-
(2000)
Electrophoresis
, vol.21
, pp. 1054-1070
-
-
Santoni, V.1
Molloy, M.2
Rabilloud, T.3
-
75
-
-
0042691509
-
Nuclear membrane proteins with potential disease links found by subtractive proteomics
-
Schirmer, E. C., Florens, L., Guan, T., Yates, J. R., III, and Gerace, L. (2003) Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science 301, 1380-1382
-
(2003)
Science
, vol.301
, pp. 1380-1382
-
-
Schirmer, E.C.1
Florens, L.2
Guan, T.3
Yates III, J.R.4
Gerace, L.5
-
76
-
-
30544449477
-
LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins
-
Brachner, A., Reipert, S., Foisner, R., and Gotzmann, J. (2005) LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins. J. Cell Sci. 118, 5797-5810
-
(2005)
J. Cell Sci.
, vol.118
, pp. 5797-5810
-
-
Brachner, A.1
Reipert, S.2
Foisner, R.3
Gotzmann, J.4
-
77
-
-
28544437813
-
Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin
-
Wilhelmsen, K., Litjens, S. H., Kuikman, I., Tshimbalanga, N., Janssen, H., van den Bout, I., Raymond, K., and Sonnenberg. A. (2005) Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin. J. Cell Biol. 171, 799-810
-
(2005)
J. Cell Biol.
, vol.171
, pp. 799-810
-
-
Wilhelmsen, K.1
Litjens, S.H.2
Kuikman, I.3
Tshimbalanga, N.4
Janssen, H.5
van den Bout, I.6
Raymond, K.7
Sonnenberg, A.8
-
78
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington, M., Yuva, Y., Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Herrmann, R., Anderson, L. V., Bashir, R., Burgunder, J. M., Fallet, S., Romero, N., Fardeau, M., Straub, V., Storey, G., Pollitt, C., Richard, I., Sewry, C. A., Bushby, K., Voit, T., Blake, D. J., and Muntoni, F. (2001) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Mol. Genet 10, 2851-2859
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Herrmann, R.7
Anderson, L.V.8
Bashir, R.9
Burgunder, J.M.10
Fallet, S.11
Romero, N.12
Fardeau, M.13
Straub, V.14
Storey, G.15
Pollitt, C.16
Richard, I.17
Sewry, C.A.18
Bushby, K.19
Voit, T.20
Blake, D.J.21
Muntoni, F.22
more..
-
79
-
-
7944221826
-
Laminopathies
-
Broers, J. L., Hutchison, C. J., and Ramaekers, F. C. (2004) Laminopathies. J. Pathol. 204, 478-488
-
(2004)
J. Pathol.
, vol.204
, pp. 478-488
-
-
Broers, J.L.1
Hutchison, C.J.2
Ramaekers, F.C.3
-
80
-
-
0037160782
-
The muscular dystrophies
-
Emery, A. E. (2002) The muscular dystrophies. Lancet 359, 687-695
-
(2002)
Lancet
, vol.359
, pp. 687-695
-
-
Emery, A.E.1
-
81
-
-
6944246275
-
Charcot-Marie-Tooth disease: An update
-
Shy, M. E. (2004) Charcot-Marie-Tooth disease: an update. Curr. Opin. Neurol. 17, 579-585
-
(2004)
Curr. Opin. Neurol.
, vol.17
, pp. 579-585
-
-
Shy, M.E.1
-
82
-
-
0034620567
-
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
-
Brodsky, G. L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C., and Mestroni, L. (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101, 473-476
-
(2000)
Circulation
, vol.101
, pp. 473-476
-
-
Brodsky, G.L.1
Muntoni, F.2
Miocic, S.3
Sinagra, G.4
Sewry, C.5
Mestroni, L.6
-
83
-
-
0024263203
-
Integral membrane proteins specific to the inner nuclear membrane and associated with the nuclear lamina
-
Senior, A., and Gerace, L. (1988) Integral membrane proteins specific to the inner nuclear membrane and associated with the nuclear lamina. J. Cell Biol. 107, 2029-2036
-
(1988)
J. Cell Biol.
, vol.107
, pp. 2029-2036
-
-
Senior, A.1
Gerace, L.2
-
84
-
-
29144460260
-
Loss of time dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
-
Goodchild, R. E., Kim, C. E., and Dauer, W. T. (2005) Loss of time dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48, 923-932
-
(2005)
Neuron
, vol.48
, pp. 923-932
-
-
Goodchild, R.E.1
Kim, C.E.2
Dauer, W.T.3
-
85
-
-
1642433201
-
Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
-
Goodchild, R. E., and Dauer, W. T. (2004) Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc. Natl. Acad. Sci. U. S. A. 101, 847-852
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 847-852
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
86
-
-
0034681345
-
MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin
-
Lin, F., Blake, D. L., Callebaut, I., Skerjanc, I. S., Holmer, L., McBurney, M. W., Paulin-Levasseur, M., and Worman, H. J. (2000) MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. J. Biol. Chem. 275, 4840-4847
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 4840-4847
-
-
Lin, F.1
Blake, D.L.2
Callebaut, I.3
Skerjanc, I.S.4
Holmer, L.5
McBurney, M.W.6
Paulin-Levasseur, M.7
Worman, H.J.8
-
87
-
-
21644480074
-
All in the family: Evidence for four new LEM-domain proteins Lem2 (NET-25), Lem3, Lem4 and Lem5 in the human genome
-
Lee, K. K., and Wilson, K. L. (2004) All in the family: evidence for four new LEM-domain proteins Lem2 (NET-25), Lem3, Lem4 and Lem5 in the human genome. Symp. Soc. Exp. Biol. 329-239
-
(2004)
Symp. Soc. Exp. Biol.
, pp. 239-329
-
-
Lee, K.K.1
Wilson, K.L.2
-
88
-
-
15444380529
-
Syne proteins anchor muscle nuclei at the neuromuscular junction
-
Grady, R. M., Starr, D. A., Ackerman, G. L., Sanes, J. R., and Han, M. (2005) Syne proteins anchor muscle nuclei at the neuromuscular junction. Proc. Natl. Acad. Sci. U. S. A. 102, 4359-4364
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 4359-4364
-
-
Grady, R.M.1
Starr, D.A.2
Ackerman, G.L.3
Sanes, J.R.4
Han, M.5
-
89
-
-
0023830989
-
Expression of nuclear lamina during mouse preimplantation development
-
Houliston, E., Guilly, M. N., Courvalin, J. C., and Maro, B. (1988) Expression of nuclear lamina during mouse preimplantation development. Development 102, 271-278
-
(1988)
Development
, vol.102
, pp. 271-278
-
-
Houliston, E.1
Guilly, M.N.2
Courvalin, J.C.3
Maro, B.4
-
90
-
-
0023180365
-
Differential expression of nuclear lamin proteins during chicken development
-
Lehner, C. F., Stick, R., Eppenberger, H. M., and Nigg, E. A. (1987) Differential expression of nuclear lamin proteins during chicken development J. Cell Biol. 105, 577-587
-
(1987)
J. Cell Biol.
, vol.105
, pp. 577-587
-
-
Lehner, C.F.1
Stick, R.2
Eppenberger, H.M.3
Nigg, E.A.4
-
91
-
-
0025013927
-
Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation
-
Rober, R. A., Gieseler, R. K., Peters, J. H., Weber, K., and Osborn, M. (1990) Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation. Exp. Cell Res. 190, 185-194
-
(1990)
Exp. Cell Res.
, vol.190
, pp. 185-194
-
-
Rober, R.A.1
Gieseler, R.K.2
Peters, J.H.3
Weber, K.4
Osborn, M.5
-
92
-
-
0030839323
-
A- and B-type lamins are differentially expressed in normal human tissues
-
Broers, J. L., Machiels, B. M., Kuijpers, H. J., Smedts, F., van den Kleboom, R., Raymond, Y., and Ramaekers, F. C. (1997) A- and B-type lamins are differentially expressed in normal human tissues. Histochem. Cell Biol. 107, 505-517
-
(1997)
Histochem. Cell Biol.
, vol.107
, pp. 505-517
-
-
Broers, J.L.1
Machiels, B.M.2
Kuijpers, H.J.3
Smedts, F.4
van den Kleboom, R.5
Raymond, Y.6
Ramaekers, F.C.7
-
93
-
-
0030848593
-
Comparison of A and B-type lamin expression in reactive lymph nodes and nodular sclerosing Hodgkin's disease
-
Jansen, M., Machiels, B., Hopman, A., Broers, J., Bot, F., Arends, J., Ramaekers, F., and Schouten, H. (1997) Comparison of A and B-type lamin expression in reactive lymph nodes and nodular sclerosing Hodgkin's disease. Histopathology 31, 304-312
-
(1997)
Histopathology
, vol.31
, pp. 304-312
-
-
Jansen, M.1
Machiels, B.2
Hopman, A.3
Broers, J.4
Bot, F.5
Arends, J.6
Ramaekers, F.7
Schouten, H.8
-
94
-
-
0034665691
-
UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-binding protein
-
Fitzgerald, J., Kennedy, D., Viseshakul, N., Cohen, B. N., Mattick, J., Bateman, J. F., and Forsayeth, J. R. (2000) UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-binding protein. Brain Res. 877, 110-123
-
(2000)
Brain Res.
, vol.877
, pp. 110-123
-
-
Fitzgerald, J.1
Kennedy, D.2
Viseshakul, N.3
Cohen, B.N.4
Mattick, J.5
Bateman, J.F.6
Forsayeth, J.R.7
-
95
-
-
0037007048
-
Large-scale analysis of the human and mouse transcriptomes
-
Su, A. I., Cooke, M. P., Ching, K. A., Hakak, Y., Walker, J. R., Wiltshire, T., Orth, A. P., Vega, R. G., Sapinoso, L. M., Moqrich, A., Patapoutian, A., Hampton, G. M., Schultz, P. G., and Hogenesch, J. B. (2002) Large-scale analysis of the human and mouse transcriptomes. Proc. Natl. Acad. Sci. U. S. A. 99, 4465-4470
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 4465-4470
-
-
Su, A.I.1
Cooke, M.P.2
Ching, K.A.3
Hakak, Y.4
Walker, J.R.5
Wiltshire, T.6
Orth, A.P.7
Vega, R.G.8
Sapinoso, L.M.9
Moqrich, A.10
Patapoutian, A.11
Hampton, G.M.12
Schultz, P.G.13
Hogenesch, J.B.14
-
96
-
-
16244368745
-
Identification of novel integral membrane proteins of the nuclear envelope with potential disease links using subtractive proteomics
-
in (Chadwick, D. J., and Goode, J. A., eds) John Wiley & Sons Ltd., Chichester, UK
-
Schirmer, E. C., Florens, L., Guan, T., Yates, J. R., III, and Gerace, L. (2005) Identification of novel integral membrane proteins of the nuclear envelope with potential disease links using subtractive proteomics, in Novartis Foundation Symposium No. 264 Nuclear Organization in Development and Disease (Chadwick, D. J., and Goode, J. A., eds) pp. 63-76, John Wiley & Sons Ltd., Chichester, UK
-
(2005)
Novartis Foundation Symposium No. 264 Nuclear Organization in Development and Disease
, pp. 63-76
-
-
Schirmer, E.C.1
Florens, L.2
Guan, T.3
Yates III, J.R.4
Gerace, L.5
-
97
-
-
25144491496
-
The nuclear membrane proteome: Extending the envelope
-
Schirmer, E. C., and Gerace, L. (2005) The nuclear membrane proteome: extending the envelope. Trends Biochem. Sci. 30, 551-558
-
(2005)
Trends Biochem. Sci.
, vol.30
, pp. 551-558
-
-
Schirmer, E.C.1
Gerace, L.2
-
98
-
-
0035694702
-
unc-83 encodes a novel component of the nuclear envelope and is essential for proper nuclear migration
-
Starr, D. A., Hermann, G. J., Malone, C. J., Fixsen, W., Priess, J. R., Horvitz, H. R., and Han, M. (2001) unc-83 encodes a novel component of the nuclear envelope and is essential for proper nuclear migration. Development 128, 5039-5050
-
(2001)
Development
, vol.128
, pp. 5039-5050
-
-
Starr, D.A.1
Hermann, G.J.2
Malone, C.J.3
Fixsen, W.4
Priess, J.R.5
Horvitz, H.R.6
Han, M.7
-
99
-
-
5144220584
-
Crystal structure of the human lamin A coil 2B dimer: Implications for the head-to-tail association of nuclear lamins
-
Strelkov, S. V., Schumacher, J., Burkhard, P., Aebi, U., and Herrmann, H. (2004) Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins. J. Mol. Biol. 343, 1067-1080
-
(2004)
J. Mol. Biol.
, vol.343
, pp. 1067-1080
-
-
Strelkov, S.V.1
Schumacher, J.2
Burkhard, P.3
Aebi, U.4
Herrmann, H.5
-
100
-
-
1542382269
-
Multiple and surprising new functions for emerin, a nuclear membrane protein
-
Bengtsson, L., and Wilson, K. L. (2004) Multiple and surprising new functions for emerin, a nuclear membrane protein. Curr. Opin. Cell. Biol. 16, 73-79
-
(2004)
Curr. Opin. Cell. Biol.
, vol.16
, pp. 73-79
-
-
Bengtsson, L.1
Wilson, K.L.2
-
101
-
-
28444447422
-
The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking
-
Tunnah, D., Sewry, C. A., Vaux, D., Schirmer, E. C., and Morris, G. E. (2005) The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking. J. Mol. Histol. 36, 337-344
-
(2005)
J. Mol. Histol.
, vol.36
, pp. 337-344
-
-
Tunnah, D.1
Sewry, C.A.2
Vaux, D.3
Schirmer, E.C.4
Morris, G.E.5
-
102
-
-
0021955147
-
Phosphorylation of the nuclear lamins during interphase and mitosis
-
Ottaviano, Y., and Gerace, L (1985) Phosphorylation of the nuclear lamins during interphase and mitosis. J. Biol. Chem. 260, 624-632
-
(1985)
J. Biol. Chem.
, vol.260
, pp. 624-632
-
-
Ottaviano, Y.1
Gerace, L.2
-
103
-
-
0025924582
-
A complex containing p34cdc2 and cyclin B phosphorylates the nuclear lamin and disassembles nuclei of clam oocytes in vitro
-
Dessev, G., Iovcheva-Dessev, C., Bischoff, J. R., Beach, D., and Goldman, R. (1991) A complex containing p34cdc2 and cyclin B phosphorylates the nuclear lamin and disassembles nuclei of clam oocytes in vitro. J. Cell Biol. 112, 523-533
-
(1991)
J. Cell Biol.
, vol.112
, pp. 523-533
-
-
Dessev, G.1
Iovcheva-Dessev, C.2
Bischoff, J.R.3
Beach, D.4
Goldman, R.5
-
104
-
-
0025285068
-
Identification of cell cycle-regulated phosphorylation sites on nuclear lamin C
-
Ward, G. E., and Kirschner, M. W. (1990) Identification of cell cycle-regulated phosphorylation sites on nuclear lamin C. Cell 61, 561-577
-
(1990)
Cell
, vol.61
, pp. 561-577
-
-
Ward, G.E.1
Kirschner, M.W.2
-
105
-
-
0025736038
-
Disassembly of in vitro formed lamin head-to-tail polymers by CDC2 kinase
-
Peter, M., Heitlinger, E., Haner, M., Aebi, U., and Nigg, E. A. (1991) Disassembly of in vitro formed lamin head-to-tail polymers by CDC2 kinase. EMBO J. 10, 1535-1544
-
(1991)
EMBO J.
, vol.10
, pp. 1535-1544
-
-
Peter, M.1
Heitlinger, E.2
Haner, M.3
Aebi, U.4
Nigg, E.A.5
-
106
-
-
0025352896
-
Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
-
Heald, R., and McKeon, F. (1990) Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell 61, 579-589
-
(1990)
Cell
, vol.61
, pp. 579-589
-
-
Heald, R.1
McKeon, F.2
-
107
-
-
0029417112
-
S-phase phosphorylation of lamin B2
-
Kill, I. R., and Hutchison, C. J. (1995) S-phase phosphorylation of lamin B2. FEBS Lett. 377, 26-30
-
(1995)
FEBS Lett.
, vol.377
, pp. 26-30
-
-
Kill, I.R.1
Hutchison, C.J.2
-
108
-
-
0036185987
-
The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region
-
Takano, M., Takeuchi, M., Ito, H., Furukawa, K., Sugimoto, K., Omata, S., and Horigome, T. (2002) The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region. Eur. J. Biochem. 269, 943-953
-
(2002)
Eur. J. Biochem.
, vol.269
, pp. 943-953
-
-
Takano, M.1
Takeuchi, M.2
Ito, H.3
Furukawa, K.4
Sugimoto, K.5
Omata, S.6
Horigome, T.7
-
109
-
-
28844449551
-
Dissociation of emerin from barrier-to-autointegration factor is regulated through mitotic phosphorylation of emerin in a xenopus egg cell-free system
-
Hirano, Y., Segawa, M., Ouchi, F. S., Yamakawa, Y., Furukawa, K., Takeyasu, K., and Horigome, T. (2005) Dissociation of emerin from barrier-to-autointegration factor is regulated through mitotic phosphorylation of emerin in a xenopus egg cell-free system. J. Biol. Chem. 280, 39925-39933
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 39925-39933
-
-
Hirano, Y.1
Segawa, M.2
Ouchi, F.S.3
Yamakawa, Y.4
Furukawa, K.5
Takeyasu, K.6
Horigome, T.7
-
110
-
-
0031969698
-
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype
-
Ellis, J. A., Craxton, M., Yates, J. R., and Kendrick-Jones, J. (1998) Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. J. Cell Sci. 111, 781-792
-
(1998)
J. Cell Sci.
, vol.111
, pp. 781-792
-
-
Ellis, J.A.1
Craxton, M.2
Yates, J.R.3
Kendrick-Jones, J.4
-
111
-
-
0034677203
-
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review
-
Pivnick, E. K., Angle, B., Kaufman, R. A., Hall, B. D., Pitukcheewanont, P., Hersh, J. H., Fowlkes, J. L., Sanders, L. P., O'Brien, J. M., Carroll, G. S., Gunther, W. M., Morrow, H. G., Burghen, G. A., and Ward, J. C. (2000) Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. Am. J. Med. Genet. 90, 131-140
-
(2000)
Am. J. Med. Genet.
, vol.90
, pp. 131-140
-
-
Pivnick, E.K.1
Angle, B.2
Kaufman, R.A.3
Hall, B.D.4
Pitukcheewanont, P.5
Hersh, J.H.6
Fowlkes, J.L.7
Sanders, L.P.8
O'Brien, J.M.9
Carroll, G.S.10
Gunther, W.M.11
Morrow, H.G.12
Burghen, G.A.13
Ward, J.C.14
-
112
-
-
2142647268
-
Two new cases of Barraquer-Simons syndrome
-
Ferrarini, A., Milani, D., Bottigelli, M., Cagnoli, G., and Selicorni, A. (2004) Two new cases of Barraquer-Simons syndrome. Am. J. Med. Genet. A 126, 427-429
-
(2004)
Am. J. Med. Genet. A
, vol.126
, pp. 427-429
-
-
Ferrarini, A.1
Milani, D.2
Bottigelli, M.3
Cagnoli, G.4
Selicorni, A.5
-
113
-
-
0037039225
-
Familial lipodystrophy associated with neurodegeneration and congenital cataracts
-
Berger, J. R., Oral, E. A., and Taylor, S. I. (2002) Familial lipodystrophy associated with neurodegeneration and congenital cataracts. Neurology 58, 43-47
-
(2002)
Neurology
, vol.58
, pp. 43-47
-
-
Berger, J.R.1
Oral, E.A.2
Taylor, S.I.3
-
114
-
-
0042695865
-
Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?
-
Rajab, A., Khaburi, M., Spranger, S., Kunze, J., and Spranger, J. (2003) Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome? Am. J. Med. Genet. A 121, 271-276
-
(2003)
Am. J. Med. Genet. A
, vol.121
, pp. 271-276
-
-
Rajab, A.1
Khaburi, M.2
Spranger, S.3
Kunze, J.4
Spranger, J.5
-
115
-
-
1942469525
-
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
-
Csoka, A. B., Cao, H., Sammak, P. J., Constantinescu, D., Schatten, G. P., and Hegele, R. A. (2004) Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J. Med. Genet. 41, 304-308
-
(2004)
J. Med. Genet.
, vol.41
, pp. 304-308
-
-
Csoka, A.B.1
Cao, H.2
Sammak, P.J.3
Constantinescu, D.4
Schatten, G.P.5
Hegele, R.A.6
-
116
-
-
0037342243
-
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
-
Caux, F., Dubosclard, E., Lascols, O., Buendia, B., Chazouilleres, O., Cohen, A., Courvalin, J., Laroche, L., Capeau, J., Vigouroux, C., and Christin-Maitre, S. (2003) A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J. Clin. Endocrinol. Metab. 88, 1006-1013
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 1006-1013
-
-
Caux, F.1
Dubosclard, E.2
Lascols, O.3
Buendia, B.4
Chazouilleres, O.5
Cohen, A.6
Courvalin, J.7
Laroche, L.8
Capeau, J.9
Vigouroux, C.10
Christin-Maitre, S.11
-
117
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
-
Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., and Bonne, G. (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet. 71, 426-431
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
Helbling-Leclerc, A.4
D'Apice, M.5
Massart, C.6
Capon, F.7
Sbraccia, P.8
Federici, M.9
Lauro, R.10
Tudisco, C.11
Pallotta, R.12
Scarano, G.13
Dallapiccola, B.14
Merlini, L.15
Bonne, G.16
-
118
-
-
0041919374
-
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
-
Agarwal, A. K., Fryns, J. P., Auchus, R. J., and Garg, A. (2003) Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum. Mol. Genet. 12, 1995-2001
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1995-2001
-
-
Agarwal, A.K.1
Fryns, J.P.2
Auchus, R.J.3
Garg, A.4
|